Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with AIFM1 variant

[1]  Xiaomei Lu,et al.  Case Report: A Novel Intronic Mutation in AIFM1 Associated With Fatal Encephalomyopathy and Mitochondrial Disease in Infant , 2022, Frontiers in Pediatrics.

[2]  D. Dykxhoorn,et al.  Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43 , 2022, Stem cell research.

[3]  G. Rasp,et al.  Mitochondrial Disease and Hearing Loss in Children: A Systematic Review , 2022, The Laryngoscope.

[4]  J. Elrod,et al.  Mitochondrial calcium exchange in physiology and disease. , 2021, Physiological reviews.

[5]  D. Baralle,et al.  Splicing in the Diagnosis of Rare Disease: Advances and Challenges , 2021, Frontiers in Genetics.

[6]  J. Guan,et al.  Generation of a human induced pluripotent stem cell line (CPGHi003-A) from an auditory neuropathy patient with AIFM1 p.R422Q mutation. , 2021, Stem cell research.

[7]  Yunpeng Hou,et al.  Mitochondrial Ca2+ Overload Leads to Mitochondrial Oxidative Stress and Delayed Meiotic Resumption in Mouse Oocytes , 2020, Frontiers in Cell and Developmental Biology.

[8]  P. Ferreira,et al.  The apoptosis‐inducing factor family: Moonlighting proteins in the crosstalk between mitochondria and nuclei , 2020, IUBMB life.

[9]  M. Zeng,et al.  Hexavalent chromium-induced apoptosis in Hep3B cells is accompanied by calcium overload, mitochondrial damage, and AIF translocation. , 2020, Ecotoxicology and environmental safety.

[10]  Hao Wu,et al.  Mitochondrial Dysfunction and Therapeutic Targets in Auditory Neuropathy , 2020, Neural plasticity.

[11]  Z. Jia,et al.  The structure of the MICU1‐MICU2 complex unveils the regulation of the mitochondrial calcium uniporter , 2020, The EMBO journal.

[12]  J. Riemer,et al.  Apoptosis inducing factor and mitochondrial NADH dehydrogenases: redox-controlled gear boxes to switch between mitochondrial biogenesis and cell death , 2020, Biological chemistry.

[13]  C. Brenner,et al.  AIF meets the CHCHD4/Mia40-dependent mitochondrial import pathway. , 2020, Biochimica et Biophysica Acta - Molecular Basis of Disease.

[14]  John C. Marioni,et al.  Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression , 2020, Nature Communications.

[15]  Xiaohang Yang,et al.  Drosophila Prominin-like, a homolog of CD133, interacts with ND20 to maintain mitochondrial function , 2019, Cell & Bioscience.

[16]  Channy Park,et al.  Pyridoxine Preferentially Induces Auditory Neuropathy Through Mitochondrial Dysfunction and Endoplasmic Reticulum Stress-Mediated Apoptosis , 2019, The Annals of otology, rhinology, and laryngology.

[17]  Hao Xiong,et al.  Mitochondrial Calcium Transporters Mediate Sensitivity to Noise-Induced Losses of Hair Cells and Cochlear Synapses , 2019, Front. Mol. Neurosci..

[18]  T. Heinbockel,et al.  The Effects of Quinine on Neurophysiological Properties of Dopaminergic Neurons , 2018, Neurotoxicity Research.

[19]  Q. Ma,et al.  Mitochondrial Dysfunctions Contribute to Hypertrophic Cardiomyopathy in Patient iPSC-Derived Cardiomyocytes with MT-RNR2 Mutation , 2018, Stem cell reports.

[20]  M. Bitner-Glindzicz,et al.  The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management , 2018, Human Genetics.

[21]  Huanxing Su,et al.  Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs , 2017, Stem cell reports.

[22]  Qiaobing Xu,et al.  Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents , 2017, Nature.

[23]  Yusuke Hirabayashi,et al.  ER-mitochondria tethering by PDZD8 regulates Ca2+ dynamics in mammalian neurons , 2017, Science.

[24]  J. Bok,et al.  Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing. , 2017, Gene.

[25]  H. Ueda,et al.  Cochlear Cell Modeling Using Disease-Specific iPSCs Unveils a Degenerative Phenotype and Suggests Treatments for Congenital Progressive Hearing Loss. , 2017, Cell reports.

[26]  Zachery D. Morrissey,et al.  Directed Differentiation of Human Embryonic Stem Cells Toward Placode‐Derived Spiral Ganglion‐Like Sensory Neurons , 2016, Stem cells translational medicine.

[27]  Greg L. Hura,et al.  Defining NADH-Driven Allostery Regulating Apoptosis-Inducing Factor. , 2016, Structure.

[28]  T. Noda,et al.  In Vitro Models of GJB2-Related Hearing Loss Recapitulate Ca2+ Transients via a Gap Junction Characteristic of Developing Cochlea , 2016, Stem cell reports.

[29]  I. Sevrioukova Structure/Function Relations in AIFM1 Variants Associated with Neurodegenerative Disorders. , 2016, Journal of molecular biology.

[30]  K. Tokatlidis,et al.  Oxidative folding in the mitochondrial intermembrane space: A regulated process important for cell physiology and disease , 2016, Biochimica et biophysica acta.

[31]  M. Tekin,et al.  ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice , 2016, Proceedings of the National Academy of Sciences.

[32]  Ping Chen,et al.  Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell‐Like Cells , 2016, Stem cells translational medicine.

[33]  Chao Zhang,et al.  Effects of genetic correction on the differentiation of hair cell-like cells from iPSCs with MYO15A mutation , 2016, Cell Death and Differentiation.

[34]  Steve D. M. Brown,et al.  Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair , 2016, Genome Medicine.

[35]  K. Kaga Auditory nerve disease and auditory neuropathy spectrum disorders. , 2016, Auris, nasus, larynx.

[36]  J. Dengjel,et al.  The Ca(2+)-Dependent Release of the Mia40-Induced MICU1-MICU2 Dimer from MCU Regulates Mitochondrial Ca(2+) Uptake. , 2015, Cell metabolism.

[37]  M. Zeviani,et al.  Loss of apoptosis-inducing factor critically affects MIA40 function , 2015, Cell Death and Disease.

[38]  P. Bénit,et al.  Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis. , 2015, Molecular cell.

[39]  S. Weissman,et al.  Transcriptome Signature and Regulation in Human Somatic Cell Reprogramming , 2015, Stem cell reports.

[40]  Suhua Chang,et al.  Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder , 2015, Journal of Medical Genetics.

[41]  B. Herguedas,et al.  Structural insights into the coenzyme mediated monomer-dimer transition of the pro-apoptotic apoptosis inducing factor. , 2014, Biochemistry.

[42]  Daniel J. Gaffney,et al.  Genetic Background Drives Transcriptional Variation in Human Induced Pluripotent Stem Cells , 2014, PLoS genetics.

[43]  R. Rizzuto,et al.  MICU1 and MICU2 Finely Tune the Mitochondrial Ca2+ Uniporter by Exerting Opposite Effects on MCU Activity , 2014, Molecular cell.

[44]  V. Mootha,et al.  MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter , 2014, EMBO reports.

[45]  J. Sheng,et al.  Efficient and Rapid Derivation of Primitive Neural Stem Cells and Generation of Brain Subtype Neurons From Human Pluripotent Stem Cells , 2013, Stem cells translational medicine.

[46]  S. Yamanaka,et al.  Global splicing pattern reversion during somatic cell reprogramming. , 2013, Cell reports.

[47]  M. Larsen,et al.  Sensorineural hearing loss in OPA1-linked disorders. , 2013, Brain : a journal of neurology.

[48]  K. Kaga,et al.  A prevalent founder mutation and genotype–phenotype correlations of OTOF in Japanese patients with auditory neuropathy , 2012, Clinical genetics.

[49]  Akira Inagaki,et al.  A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. , 2012, American journal of human genetics.

[50]  Stuart L. Johnson,et al.  Restoration of auditory evoked responses by human ES cell-derived otic progenitors , 2012, Nature.

[51]  A. Starr,et al.  Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals , 2009, Brain Research.

[52]  M. El-Badry,et al.  Evaluation of inner hair cell and nerve fiber loss as sufficient pathologies underlying auditory neuropathy , 2009, Hearing Research.

[53]  G. Kroemer,et al.  AIF: Not Just an Apoptosis‐Inducing Factor , 2009, Annals of the New York Academy of Sciences.

[54]  Carsten Kutzner,et al.  GROMACS 4:  Algorithms for Highly Efficient, Load-Balanced, and Scalable Molecular Simulation. , 2008, Journal of chemical theory and computation.

[55]  David S. Park,et al.  Dissociating the dual roles of apoptosis‐inducing factor in maintaining mitochondrial structure and apoptosis , 2006, The EMBO journal.

[56]  R. Lang-Roth,et al.  Prevalence of auditory neuropathy/synaptopathy in a population of children with profound hearing loss. , 2006, International journal of pediatric otorhinolaryngology.

[57]  N. Ben-Tal,et al.  Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy , 2006, Nature Genetics.

[58]  A. Starr,et al.  A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21 , 2004, Journal of Medical Genetics.

[59]  Wayne N. Frankel,et al.  The harlequin mouse mutation downregulates apoptosis-inducing factor , 2002, Nature.

[60]  R. Shepherd,et al.  Clinical findings for a group of infants and young children with auditory neuropathy. , 1999, Ear and hearing.

[61]  K. Needham,et al.  Electrophysiological properties of neurosensory progenitors derived from human embryonic stem cells. , 2014, Stem cell research.

[62]  Lei Gao,et al.  Auditory neuropathy. , 2015, Handbook of clinical neurology.